Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. (Q37736430)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28358029%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

title

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28358029%20AND%20SRC:MED&resulttype=core&format=json

genome-wide association study

14 March 2020

main subject

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0 references

14

1 reference

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14 March 2020

Sonja Klebe

17

1 reference

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14 March 2020

Sanjay V Patel

24

1 reference

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14 March 2020

Joan Bailey-Wilson

26

1 reference

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14 March 2020

Jamie E Craig

29

1 reference

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14 March 2020

John H. Fingert

30

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14 March 2020

Yi-Ju Li

35

1 reference

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14 March 2020

Sudha Iyengar

36

1 reference

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14 March 2020

33

Gordon K Klintworth

1 reference

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14 March 2020

1

Natalie A Afshari

1 reference

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14 March 2020

18

Mollie A Minear

1 reference

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14 March 2020

10

Jacqueline Rimmler

1 reference

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14 March 2020

32

Anthony J Aldave

1 reference

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14 March 2020

author name string

Robert P Igo

2

1 reference

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14 March 2020

Nathan J Morris

3

1 reference

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14 March 2020

Shiwani Sharma

5

1 reference

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14 March 2020

V Lakshmi Pulagam

6

1 reference

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14 March 2020

Steven Dunn

7

1 reference

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14 March 2020

John F Stamler

8

1 reference

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14 March 2020

Barbara J Truitt

9

1 reference

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14 March 2020

Abraham Kuot

11

1 reference

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14 March 2020

Christopher R Croasdale

12

1 reference

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14 March 2020

Xuejun Qin

13

1 reference

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14 March 2020

S Amer Riazuddin

15

1 reference

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14 March 2020

Richard Mills

16

1 reference

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14 March 2020

Jiagang Zhao

19

1 reference

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14 March 2020

Elmer Balajonda

20

1 reference

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14 March 2020

George O Rosenwasser

21

1 reference

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14 March 2020

Keith H Baratz

22

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14 March 2020

V Vinod Mootha

23

1 reference

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14 March 2020

Simon G Gregory

25

1 reference

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14 March 2020

Francis W Price

28

1 reference

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14 March 2020

John D Gottsch

31

1 reference

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14 March 2020

Jonathan H Lass

34

1 reference

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14 March 2020

Dwight Stambolian

4

1 reference

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14 March 2020

Marianne O Price

27

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language of work or name

English

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publication date

30 March 2017

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14 March 2020

published in

Nature Communications

1 reference

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14 March 2020

volume

8

1 reference

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14 March 2020

page(s)

14898

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Creative Commons Attribution 4.0 International

14 March 2020

copyright license

start time

30 March 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

genome-wide association study

1 reference

Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy

inferred from title

cites work

1 reference

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Cornea preservation time study: methods and potential impact on the cornea donor pool in the United States

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TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy

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RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.

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Proteomics of Fuchs' endothelial corneal dystrophy support that the extracellular matrix of Descemet's membrane is disordered

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Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy

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Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy

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Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4

22 August 2017

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22 August 2017

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22 August 2017

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Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

22 August 2017

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A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy

22 August 2017

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Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy

22 August 2017

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Detectable clonal mosaicism from birth to old age and its relationship to cancer

22 August 2017

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Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

22 August 2017

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Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process

22 August 2017

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HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

22 August 2017

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A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability

22 August 2017

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Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

22 August 2017

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Renal collecting system growth and function depend upon embryonic γ1 laminin expression

22 August 2017

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Prevalence of corneal dystrophies in the United States: estimates from claims data

22 August 2017

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N-myc downstream-regulated gene 2, a novel estrogen-targeted gene, is involved in the regulation of Na+/K+-ATPase

22 August 2017

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Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy

22 August 2017

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Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus

22 August 2017

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22 August 2017

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E2-2 protein and Fuchs's corneal dystrophy

22 August 2017

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Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

22 August 2017

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22 August 2017

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22 August 2017

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Genome-wide linkage scan in fuchs endothelial corneal dystrophy

22 August 2017

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22 August 2017

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22 August 2017

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Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience

22 August 2017

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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

22 August 2017

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Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy

22 August 2017

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Methods for high-density admixture mapping of disease genes

22 August 2017

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Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

22 August 2017

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Genomic control for association studies

22 August 2017

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Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

22 August 2017

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Corneal endothelial dystrophy. A study of 64 families

22 August 2017

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The L1TD1 protein interactome reveals the importance of post-transcriptional regulation in human pluripotency

14 September 2017

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NBP, a zebrafish homolog of human Kank3, is a novel Numb interactor essential for epidermal integrity and neurulation

28 September 2017

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Corneal endothelial cell apoptosis in patients with Fuchs' dystrophy

23 June 2018

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23 June 2018

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Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States

1 September 2018

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Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.

1 September 2018

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Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry

1 September 2018

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Lack of laminin gamma1 in embryonic stem cell-derived cardiomyocytes causes inhomogeneous electrical spreading despite intact differentiation and function

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379100

Association ofTCF4Gene Polymorphisms with Fuchs' Corneal Dystrophy in the Chinese

1 September 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14898

Classification of corneal endothelial disorders based on neural crest origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14898

7 January 2021

inferred from DOI database lookup

Distribution of Laminins in the Developing Human Eye

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14898

7 January 2021

inferred from DOI database lookup

Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS14898

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NCOMMS14898

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28358029%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28358029%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

PubMed publication ID

28358029

1 reference